Results 31 to 40 of about 13,679 (178)

The utility of whole exome sequencing in diagnosing Wilson disease: A case report

JPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24‐h urine copper excretion, with Kayser–Fleischer (KF) rings being a supportive ...
Mihir J. Palan, Dana Simpson, Cheryl Miranda, Melanie Hakar, Henry C. Lin   +4 more
wiley   +1 more source

TMEM199-Congenital Disorder of Glycosylation With Novel Phenotype and Genotype in a Chinese Boy

Frontiers in Genetics, 2022
Background: TMEM199-congenital disorder of glycosylation (TMEM199-CDG) is a rare autosomal recessive inherited disease characterized by chronically elevated serum transaminase, decreased serum ceruloplasmin, steatosis and/or fibrosis, TMEM199 mutation ...
Yuan Fang, Kuerbanjiang Abuduxikuer, Yi-Zhen Wang, Shao-Mei Li, Lian Chen, Jian-She Wang   +5 more
doaj   +1 more source

A Study of some biochemical parameters in patients with - thalassemia

مجلة بغداد للعلوم, 2008
Serum levels of iron,copper,ceruloplasmin and transferrine were estimated in three groups of patients with ?- thalassemia: 24 patients have splenectomy thalassemia major, 29 patients have non splenectomy thalassemia major and 19 patients have thalassemia
Baghdad Science Journal
doaj   +1 more source

A Case of Ileal Conduit Bleeding Caused by Porto‐Sinusoidal Vascular Disorder

Portal Hypertension &Cirrhosis, EarlyView.
ABSTRACT A 60‐year‐old man presented with recurrent stomal bleeding for 3 years. He had undergone cystoprostatectomy with ileal conduit diversion for bladder cancer 7 years prior. Endoscopy revealed multiple protruding lesions (0.6–0.8 cm) inside the stoma, which were initially suspected to be ectopic varices given concomitant esophageal varices and ...
Lu Yu, Hao Wu, Huan Tong
wiley   +1 more source

Evaluation of salivary ceruloplasmin for the diagnosis of Wilson’s disease

Scientific Reports
The serum ceruloplasmin assay is the most commonly used test for diagnosing Wilson’s disease (WD). Despite the utility of non-invasive tests for diagnosing WD, no such tests have been developed.
Nian Zhang, Limin Wu, Pengyu Jiang, Zhihui Ji, Miaozhu Yin, Huan Zhou, Lei He, Zehua Xia, Fengying Wang, Xin Xiao, Hui Han   +10 more
doaj   +1 more source

Evaluation of systemic consequences of brachycephalic obstructive airway syndrome in dogs

Veterinary Record, EarlyView.
Abstract Background Brachycephalic obstructive airway syndrome (BOAS) results from upper airway anatomical abnormalities and may cause systemic effects depending on severity. Methods A prospective, case‒control and observational study was conducted.
Andréia Coutinho Facin, Ariadne Rein, Isabella de Almeida Fabris, Beatriz Gasser, Luiz Paulo Nogueira Aires, Bruna Bressianini Lima, Daniele Azevedo Gandra, Daniela Gomes da Silva, Ricardo Andrés Ramirez Uscategui, Gabriela Castro Lopes Evangelista, Marcus Antônio Rossi Feliciano, Paola Castro Moraes   +11 more
wiley   +1 more source

Serum ceruloplasmin levels for early detection of oral precancer and oral cancer—a systematic review and meta-analysis

Journal of Oral Medicine and Oral Surgery
Introduction: Oral squamous cell carcinoma (OSCC) is the most prevalent malignancy of the head and neck region. It frequently develops from oral potentially malignant disorders such as leukoplakia and oral submucous fibrosis, both of which carry a ...
Joseph Marina, Naik Veena V.
doaj   +1 more source

Serum copper, ceruloplasmin and monoamine oxidase in diabetics with different times of evolution of the disease.

Acta Médica Portuguesa, 1980
In 103 diabetics simultaneous measurements of serum copper and ceruloplasmin were made, together with the determination of glucose, cholesterol and monoamine oxidase.
Maria Azevedo, Francisca Fernandes, Pedro Lisboa, Gabriela Fontes, Carlos Manso   +4 more
doaj   +1 more source

Iron Physiology and Its Impact on Atopic Diseases: An EAACI Taskforce Report

Allergy, EarlyView.
ABSTRACT Iron is essential for oxygen transport, energy metabolism, and immune regulation. Yet iron deficiency is the most common micronutrient disorder across all age groups, affecting nearly one quarter of the global population. Iron deficiency triggers nutritional immunity, a host defense mechanism that withholds and redistributes iron, contributing
Franziska Roth‐Walter, Ioana Agache, Beatriz Cabanillas, Roberto Berni Canani, Pasquale Comberiati, Holger Garn, Cristina Gomez‐Casado, Karin Hufnagl, Ekaterina Khaleva, Gregorio P. Milani, Daniel Munblit, Nikolaos Douladiris, Liam O'Mahony, Frank Redegeld, Carmen Riggioni, Peter K. Smith, Betty van Esch, Emilia Vassilopoulou, Carina Venter, Diego G. Peroni   +19 more
wiley   +1 more source

CLINICAL AND EXPERIMENTAL STUDIES OF SERUM CERULOPLASMIN I

Nihon Naika Gakkai Zasshi, 1965
中福神経と銅代謝の関係が問題にされ,間脳の刺激により血清銅の増減が報告されている.著者は血清銅の大部分を占めるceruloplasmin(CPと略す)の変動に自律神経系が関与しているものと考えられるので,自律神経毒薬物としてadrenalin, insulin, pilocarpinの皮下注射および髄腔内空気注入の方法でヒトおよび家兎の血清CPの変動を調べた. adrenalin, insulinの皮下注射でヒトおよび家兎の血清CPは増加したが, pilocarpinの皮下注射では家兎の血清CPの変動をみなかつた、髄腔内空気注入によつてはCPの増加を認め, adrenalin, insulinによる刺激に比して前値に戻る時間が延長していた.
openaire   +3 more sources